X-linked hypophosphatemia

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ORPHA:89936OMIM:307800E83.3
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1FDA treatments6Active trials11Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Also known as:

X-linked hypophosphatemic ricketsXLH

Clinical phenotype terms— hover any for plain English:

Multiple rib fracturesHP:0006640Trapezoidal distal femoral condylesHP:0006432Chiari type I malformationHP:0007099Vertebral hyperostosisHP:0008442Sacroiliac joint synovitisHP:0012449Thick growth platesHP:0025369EnthesitisHP:0100686Elevated circulating fibroblast growth factor 23 concentrationHP:6000407Generalized osteosclerosisHP:0005789CellulitisHP:0100658Renal phosphate wastingHP:0000117RicketsHP:0002748HypocalciuriaHP:0003127Abnormal lower-limb metaphysis morphologyHP:0006490OdontodysplasiaHP:0000694
Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

10 events
Mar 2026CLEOCIN PHOSPHATE: New indication approved
FDAcompleted
Mar 2026

CLINDAMYCIN PHOSPHATE: FDA approved

FDAcompleted
Feb 2026CLEOCIN PHOSPHATE: New indication approved
FDAcompleted
May 2025Phosphorus-31 Spectroscopy in Phosphate Diabetes

Hospices Civils de Lyon — NA

TrialNOT YET RECRUITING
Oct 2024A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia

Kyowa Kirin Co., Ltd. — PHASE1

TrialRECRUITING
Oct 2020Burden of Disease and Functional Impairment in XLH

Wuerzburg University Hospital

TrialACTIVE NOT RECRUITING
Mar 2019Calcitriol Monotherapy for X-Linked Hypophosphatemia

Massachusetts General Hospital — EARLY_PHASE1

TrialACTIVE NOT RECRUITING
Jul 2018X-linked Hypophosphatemia Disease Monitoring Program

Ultragenyx Pharmaceutical Inc

TrialACTIVE NOT RECRUITING
May 2018Study of Longitudinal Observation for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia in Collaboration With Asian Partners

Kyowa Kirin Co., Ltd.

TrialACTIVE NOT RECRUITING
Sep 2017Registry for Patients With X-Linked Hypophosphatemia

Kyowa Kirin Pharmaceutical Development Ltd

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

1 available

Crysvita

burosumab-twza· Kyowa Kirin, Inc.

The treatment of X-linked hypophosphatemia (XLH) in adult and pediatric patients 6 months of age and older.

View Details →FDA Label ↗

Clinical Trials

6 recruitingView all trials with filters →
Phase 11 trial
A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia
Phase 1
Actively Recruiting Prior treatment eligible
PI: Kyowa Kirin (Kyowa Kirin, Inc.) · Sites: San Francisco, California; New Haven, Connecticut +7 more · Age: 18–65 yrs
View on ClinicalTrials.gov ↗I'm interested →
Other4 trials
Burden of Disease and Functional Impairment in XLH
Active
· Sites: Würzburg · Age: 18–99 yrs
View on ClinicalTrials.gov ↗I'm interested →
X-linked Hypophosphatemia Disease Monitoring Program
Active
PI: Ultragenyx Medical Director (Ultragenyx Pharmaceuticals Inc.) · Sites: Birmingham, Alabama; Los Angeles, California +36 more
View on ClinicalTrials.gov ↗I'm interested →
Registry for Patients With X-Linked Hypophosphatemia
Actively Recruiting
· Sites: Brussels; Brussels +116 more
View on ClinicalTrials.gov ↗I'm interested →
Study of Longitudinal Observation for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia in Collaboration With Asian Partners
Active
· Sites: Osaka
View on ClinicalTrials.gov ↗I'm interested →

Specialists

11 foundView all specialists →
LR
Lars Rejnmark
Specialist
PI on 2 active trials
KK
Kyowa Kirin
San Francisco, California
Specialist

Rare Disease Specialist

AP
Amy Zhang, PhD
Specialist
PI on 2 active trials
TM
Thomas O. Carpenter, MD
Specialist
PI on 1 active trial
LM
Lothar Seefried, MD
Specialist
PI on 2 active trials1 X-linked hypophosphatemia publication
EM
Eva Liu, MD
Specialist
PI on 1 active trial
JM
James Law, BMBS, PhD, MRCPCH
Specialist
PI on 1 active trial
LP
Lea Bentur, Prof.
Specialist
PI on 5 active trials
KM
Karl L Insogna, M.D.
NEW HAVEN, CT
Specialist
PI on 1 active trial
KM
Karl L Insogna, MD
NEW HAVEN, CT
Specialist
PI on 1 active trial
RM
Rachel Levy-Olomucki, MD
CLARKSVILLE, TN
Specialist
PI on 1 active trial

Treatment Centers

8 centers
⚗️ Trial Site

Vanderbilt University Medical Center

📍 Nashville, Tennessee

⚗️ Trial Site

Mayo Clinic

📍 Jacksonville, Florida

⚗️ Trial Site

Hospital Universitario La Paz

📍 Madrid, Madrid

🏥 NORD

Stanford Medicine Rare Disease Center ↗

Stanford Medicine

📍 Stanford, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site ↗

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site ↗

Massachusetts General Hospital

📍 Boston, MA

🔬 UDN

UCLA UDN Clinical Site ↗

UCLA Health

📍 Los Angeles, CA

🏥 NORD

Mayo Clinic Center for Individualized Medicine ↗

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

Travel Grants

No travel grants are currently matched to X-linked hypophosphatemia.

Search all travel grants →NORD Financial Assistance ↗

Community

Open X-linked hypophosphatemiaForum →

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Latest news about X-linked hypophosphatemia

Disease timeline:

New trial: A First-in-human Study of KK8123 in Adults With X-linked Hypophosphatemia

Phase PHASE1 trial recruiting. KK8123

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about X-linked hypophosphatemia

Are there clinical trials for X-linked hypophosphatemia?

Yes — 6 recruiting clinical trials are currently listed for X-linked hypophosphatemia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat X-linked hypophosphatemia?

11 specialists and care centers treating X-linked hypophosphatemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.